A2V (p.Ala2Val) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
A2V (p.Ala2Val) in KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
A2V (p.Ala2Val) variant details
- p.Ala2Val
- rs199473442
- ClinGen CA007692
- ClinVar RCV000057717
- ClinVar RCV000182240
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.623
- REVEL 0.67
- ESM-1b 0.41
- AlphaMissense 0.50
- MetaLR 0.90
- MetaSVM 0.74
- CADD 17.60
- ClinVar: Uncertain significance (not provided)
- EBI: Likely pathogenic (in LQT1)
- UniProt: Likely pathogenic (in LQT1)
- Population evidence available
- Structural context available
- Cited in: Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long… (PMID 19716085)
- Cited in: Genomic organization of the KCNQ1 K+ channel gene and identification of C-terminal mutations in the long-QT syndrome. (PMID 10024302)